Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
Abu-El-Haija, Aya, Caroline McGowan, Deborah Vanderveen, and Olaf Bodamer. 2021. “Autosomal-Dominant WFS1-Related Disorder-Report of a Novel WFS1 Variant and Review of the Phenotypic Spectrum of Autosomal Recessive and Dominant Forms”. Am J Med Genet A 185 (2): 528-33.